Canonical Allele Identifier: CA2631399198

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729946-CCTCCACCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729949_3729956del , CM000678.2:g.3729949_3729956del	GRCh38
NC_000016.9:g.3779950_3779957del , CM000678.1:g.3779950_3779957del	GRCh37
NC_000016.8:g.3719951_3719958del	NCBI36
NG_009873.1:g.155167_155174del
NG_009873.2:g.155760_155767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-80_5173-73del MANE Select	ENSP00000262367.5:n.5173-80_5173-73del
ENST00000262367.9:c.5173-80_5173-73del	ENSP00000262367.5:n.5173-80_5173-73del
ENST00000382070.7:c.5059-80_5059-73del	ENSP00000371502.3:n.5059-80_5059-73del
NM_001079846.1:c.5059-80_5059-73del	NP_001073315.1:n.5059-80_5059-73del
NM_004380.2:c.5173-80_5173-73del	NP_004371.2:n.5173-80_5173-73del
XM_005255124.3:c.5128-80_5128-73del	XP_005255181.1:n.5128-80_5128-73del
XM_005255125.3:c.4756-80_4756-73del	XP_005255182.1:n.4756-80_4756-73del
XM_006720848.2:c.4912-80_4912-73del	XP_006720911.1:n.4912-80_4912-73del
XM_011522380.1:c.5119-80_5119-73del	XP_011520682.1:n.5119-80_5119-73del
XM_011522381.1:c.4420-80_4420-73del	XP_011520683.1:n.4420-80_4420-73del
XM_005255124.4:c.5128-80_5128-73del	XP_005255181.1:n.5128-80_5128-73del
XM_005255125.4:c.4756-80_4756-73del	XP_005255182.1:n.4756-80_4756-73del
XM_006720848.3:c.4912-80_4912-73del	XP_006720911.1:n.4912-80_4912-73del
XM_011522381.2:c.4420-80_4420-73del	XP_011520683.1:n.4420-80_4420-73del
XM_017022944.1:c.5167-80_5167-73del	XP_016878433.1:n.5167-80_5167-73del
NM_004380.3:c.5173-80_5173-73del MANE Select	NP_004371.2:n.5173-80_5173-73del